一名对卡马西平有反应的局灶性癫痫患者的DEPDC5基因无义突变

Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy.

作者信息

Mulkerrin Grainne, Hennessy Michael J

机构信息

Department of Neurology, Galway University Hospital, Ireland.

出版信息

Epilepsy Behav Rep. 2024 May 31;27:100683. doi: 10.1016/j.ebr.2024.100683. eCollection 2024.

DOI:10.1016/j.ebr.2024.100683

PMID:38983576

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11231713/

Abstract

•DEPDC-5 is a negative regulator of the mTOR pathway.•DEPDC-5 mutations can cause sleep-related hypermotor epilepsy.•Drug-refractory epilepsy is common in this cohort.•Carbamazepine-responsiveness in DEPDC-5-related epilepsy is described here.

摘要

•DEPDC-5是mTOR通路的负调节因子。

•DEPDC-5突变可导致与睡眠相关的运动过多性癫痫。

•药物难治性癫痫在该队列中很常见。

•本文描述了DEPDC-5相关癫痫对卡马西平的反应性。